Evidence Details for GCNT3
Basic Information Top
| Gene Symbol: | GCNT3 ( C2/4GnT,C24GNT,C2GNT2,C2GNTM,GNTM ) |
|---|---|
| Gene Full Name: | glucosaminyl (N-acetyl) transferase 3, mucin type |
| Band: | 15q22.2 |
| Quick Links | Entrez ID:9245; OMIM: 606836; Uniprot ID:GCNT3_HUMAN; ENSEMBL ID: ENSG00000140297; HGNC ID: 4205 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GCNT3|9245|nucleotide
ATGGTTCAATGGAAGAGACTCTGCCAGCTGCATTACTTGTGGGCTCTGGGCTGCTATATGCTGCTGGCCACTGTGGCTCTGAAACTTTCTTTCAGGTTGAAGTGT
GACTCTGACCACTTGGGTCTGGAGTCCAGGGAATCTCAAAGCCAGTACTGTAGGAATATCTTGTATAATTTCCTGAAACTTCCAGCAAAGAGGTCTATCAACTGT
TCAGGGGTCACCCGAGGGGACCAAGAGGCAGTGCTTCAGGCTATTCTGAATAACCTGGAGGTCAAGAAGAAGCGAGAGCCTTTCACAGACACCCACTACCTCTCC
CTCACCAGAGACTGTGAGCACTTCAAGGCTGAAAGGAAGTTCATACAGTTCCCACTGAGCAAAGAAGAGGTGGAGTTCCCTATTGCATACTCTATGGTGATTCAT
GAGAAGATTGAAAACTTTGAAAGGCTACTGCGAGCTGTGTATGCCCCTCAGAACATATACTGTGTCCATGTGGATGAGAAGTCCCCAGAAACTTTCAAAGAGGCG
GTCAAAGCAATTATTTCTTGCTTCCCAAATGTCTTCATAGCCAGTAAGCTGGTTCGGGTGGTTTATGCCTCCTGGTCCAGGGTGCAAGCTGACCTCAACTGCATG
GAAGACTTGCTCCAGAGCTCAGTGCCGTGGAAATACTTCCTGAATACATGTGGGACGGACTTTCCTATAAAGAGCAATGCAGAGATGGTCCAGGCTCTCAAGATG
TTGAATGGGAGGAATAGCATGGAGTCAGAGGTACCTCCTAAGCACAAAGAAACCCGCTGGAAATATCACTTTGAGGTAGTGAGAGACACATTACACCTAACCAAC
AAGAAGAAGGATCCTCCCCCTTATAATTTAACTATGTTTACAGGGAATGCGTACATTGTGGCTTCCCGAGATTTCGTCCAACATGTTTTGAAGAACCCTAAATCC
CAACAACTGATTGAATGGGTAAAAGACACTTATAGCCCAGATGAACACCTCTGGGCCACCCTTCAGCGTGCACGGTGGATGCCTGGCTCTGTTCCCAACCACCCC
AAGTACGACATCTCAGACATGACTTCTATTGCCAGGCTGGTCAAGTGGCAGGGTCATGAGGGAGACATCGATAAGGGTGCTCCTTATGCTCCCTGCTCTGGAATC
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ATGGTTCAATGGAAGAGACTCTGCCAGCTGCATTACTTGTGGGCTCTGGGCTGCTATATGCTGCTGGCCACTGTGGCTCTGAAACTTTCTTTCAGGTTGAAGTGT
GACTCTGACCACTTGGGTCTGGAGTCCAGGGAATCTCAAAGCCAGTACTGTAGGAATATCTTGTATAATTTCCTGAAACTTCCAGCAAAGAGGTCTATCAACTGT
TCAGGGGTCACCCGAGGGGACCAAGAGGCAGTGCTTCAGGCTATTCTGAATAACCTGGAGGTCAAGAAGAAGCGAGAGCCTTTCACAGACACCCACTACCTCTCC
CTCACCAGAGACTGTGAGCACTTCAAGGCTGAAAGGAAGTTCATACAGTTCCCACTGAGCAAAGAAGAGGTGGAGTTCCCTATTGCATACTCTATGGTGATTCAT
GAGAAGATTGAAAACTTTGAAAGGCTACTGCGAGCTGTGTATGCCCCTCAGAACATATACTGTGTCCATGTGGATGAGAAGTCCCCAGAAACTTTCAAAGAGGCG
GTCAAAGCAATTATTTCTTGCTTCCCAAATGTCTTCATAGCCAGTAAGCTGGTTCGGGTGGTTTATGCCTCCTGGTCCAGGGTGCAAGCTGACCTCAACTGCATG
GAAGACTTGCTCCAGAGCTCAGTGCCGTGGAAATACTTCCTGAATACATGTGGGACGGACTTTCCTATAAAGAGCAATGCAGAGATGGTCCAGGCTCTCAAGATG
TTGAATGGGAGGAATAGCATGGAGTCAGAGGTACCTCCTAAGCACAAAGAAACCCGCTGGAAATATCACTTTGAGGTAGTGAGAGACACATTACACCTAACCAAC
AAGAAGAAGGATCCTCCCCCTTATAATTTAACTATGTTTACAGGGAATGCGTACATTGTGGCTTCCCGAGATTTCGTCCAACATGTTTTGAAGAACCCTAAATCC
CAACAACTGATTGAATGGGTAAAAGACACTTATAGCCCAGATGAACACCTCTGGGCCACCCTTCAGCGTGCACGGTGGATGCCTGGCTCTGTTCCCAACCACCCC
AAGTACGACATCTCAGACATGACTTCTATTGCCAGGCTGGTCAAGTGGCAGGGTCATGAGGGAGACATCGATAAGGGTGCTCCTTATGCTCCCTGCTCTGGAATC
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>GCNT3|9245|protein
MVQWKRLCQLHYLWALGCYMLLATVALKLSFRLKCDSDHLGLESRESQSQYCRNILYNFLKLPAKRSINCSGVTRGDQEAVLQAILNNLEVKKKREPFTDTHYLS
LTRDCEHFKAERKFIQFPLSKEEVEFPIAYSMVIHEKIENFERLLRAVYAPQNIYCVHVDEKSPETFKEAVKAIISCFPNVFIASKLVRVVYASWSRVQADLNCM
EDLLQSSVPWKYFLNTCGTDFPIKSNAEMVQALKMLNGRNSMESEVPPKHKETRWKYHFEVVRDTLHLTNKKKDPPPYNLTMFTGNAYIVASRDFVQHVLKNPKS
QQLIEWVKDTYSPDEHLWATLQRARWMPGSVPNHPKYDISDMTSIARLVKWQGHEGDIDKGAPYAPCSGIHQRAICVYGAGDLNWMLQNHHLLANKFDPKVDDNA
LQCLEEYLRYKAIYGTEL
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MVQWKRLCQLHYLWALGCYMLLATVALKLSFRLKCDSDHLGLESRESQSQYCRNILYNFLKLPAKRSINCSGVTRGDQEAVLQAILNNLEVKKKREPFTDTHYLS
LTRDCEHFKAERKFIQFPLSKEEVEFPIAYSMVIHEKIENFERLLRAVYAPQNIYCVHVDEKSPETFKEAVKAIISCFPNVFIASKLVRVVYASWSRVQADLNCM
EDLLQSSVPWKYFLNTCGTDFPIKSNAEMVQALKMLNGRNSMESEVPPKHKETRWKYHFEVVRDTLHLTNKKKDPPPYNLTMFTGNAYIVASRDFVQHVLKNPKS
QQLIEWVKDTYSPDEHLWATLQRARWMPGSVPNHPKYDISDMTSIARLVKWQGHEGDIDKGAPYAPCSGIHQRAICVYGAGDLNWMLQNHHLLANKFDPKVDDNA
LQCLEEYLRYKAIYGTEL
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Smith, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
Linkage Studies Top